Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations.

Yang You,David Simonyan,Alexandre Bureau,Edith Gagnon,Caroline Albert,Jason R Guertin,Jean-Eric Tarride,Jacques P Brown,Laëtitia Michou

Bone reports（2023）

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摘要

In PDB families not linked to mutations, the estimates of our previous molecular test gave rise to a poor specificity. Using new estimates, the biochemical and combined tests have similar predictive abilities than our former test. Serum P1NP is a bone marker of interest for the screening for PDB in families not linked to mutations.

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关键词

Biomarker,Family history,Logistic regression,Paget's disease of bone,Precision medicine

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